Variant report

Variant	rs2080158
Chromosome Location	chr2:210920436-210920437
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10048697	0.85[AFR][1000 genomes]
rs1111193	1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1990513	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes]
rs2192323	1.00[YRI][hapmap];0.85[AFR][1000 genomes]
rs2243769	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap]
rs2539868	1.00[ASW][hapmap];1.00[LWK][hapmap];0.85[MKK][hapmap];0.91[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2539872	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs263671	0.85[MKK][hapmap];0.83[YRI][hapmap]
rs263677	1.00[YRI][hapmap]
rs2887881	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes]
rs57875655	1.00[AMR][1000 genomes]
rs58282165	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58931716	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6739292	0.85[AFR][1000 genomes]
rs73063910	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73063916	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73063929	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73063940	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73063945	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73063963	0.82[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv431969	chr2:210682494-211074494	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv1004426	chr2:210709999-211001680	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	esv1795338	chr2:210758078-211098113	Bivalent Enhancer Weak transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	esv1802749	chr2:210905194-211255611	Strong transcription ZNF genes & repeats Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:210874000-210920800	Weak transcription	Fetal Heart	heart
2	chr2:210881800-210953000	Weak transcription	Gastric	stomach
3	chr2:210882400-210922800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr2:210882400-210927800	Weak transcription	Right Ventricle	heart
5	chr2:210883000-210920600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr2:210889000-210925600	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr2:210891000-210927800	Weak transcription	Stomach Smooth Muscle	stomach
8	chr2:210893400-210939000	Weak transcription	Brain Substantia Nigra	brain
9	chr2:210894000-210969400	Weak transcription	Fetal Kidney	kidney
10	chr2:210911600-210925000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr2:210911600-210928000	Weak transcription	Primary T cells from cord blood	blood
12	chr2:210911600-210980800	Weak transcription	Pancreas	Pancrea
13	chr2:210911800-210920600	Weak transcription	Esophagus	oesophagus
14	chr2:210911800-210920600	Weak transcription	Lung	lung
15	chr2:210911800-210921000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr2:210913000-210937800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr2:210913000-210964400	Weak transcription	Primary B cells from cord blood	blood
18	chr2:210913200-210923400	Weak transcription	Fetal Intestine Large	intestine
19	chr2:210918200-210935400	Weak transcription	Primary neutrophils fromperipheralblood	blood
20	chr2:210918800-210921000	ZNF genes & repeats	Liver	Liver
21	chr2:210919000-210921800	ZNF genes & repeats	Fetal Brain Female	brain
22	chr2:210919000-210922000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr2:210919000-210922200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr2:210919200-210921200	ZNF genes & repeats	Primary hematopoietic stem cells	blood
25	chr2:210919200-210921200	ZNF genes & repeats	Brain Anterior Caudate	brain
26	chr2:210919200-210921600	ZNF genes & repeats	Brain Germinal Matrix	brain
27	chr2:210919200-210922000	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
28	chr2:210919200-210922000	ZNF genes & repeats	Fetal Muscle Leg	muscle
29	chr2:210919400-210921000	ZNF genes & repeats	Fetal Stomach	stomach
30	chr2:210919400-210921000	ZNF genes & repeats	Fetal Thymus	thymus
31	chr2:210919400-210921200	ZNF genes & repeats	Skeletal Muscle Male	skeletal muscle
32	chr2:210919400-210921200	ZNF genes & repeats	Skeletal Muscle Female	skeletal muscle
33	chr2:210919400-210921800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr2:210919400-210921800	Strong transcription	Cortex derived primary cultured neurospheres	brain
35	chr2:210919400-210922000	Strong transcription	Brain Hippocampus Middle	brain
36	chr2:210919800-210920800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr2:210919800-210921000	ZNF genes & repeats	Ovary	ovary
38	chr2:210919800-210921200	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
39	chr2:210919800-210922000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
40	chr2:210919800-210922000	ZNF genes & repeats	Fetal Intestine Small	intestine
41	chr2:210919800-210922000	Strong transcription	Left Ventricle	heart
42	chr2:210919800-210924600	Weak transcription	Pancreatic Islets	Pancreatic Islet
43	chr2:210920000-210920800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr2:210920000-210920800	Weak transcription	Fetal Lung	lung
45	chr2:210920000-210920800	ZNF genes & repeats	Psoas Muscle	Psoas
46	chr2:210920000-210921000	ZNF genes & repeats	Thymus	Thymus
47	chr2:210920000-210937200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr2:210920200-210920600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr2:210920200-210920800	Strong transcription	H1 Cell Line	embryonic stem cell
50	chr2:210920200-210920800	Weak transcription	Aorta	Aorta

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